EP 1837404 A1 20070926 - Mutant lysosomal type 5 P-type ATPase ATP13A2 and its use for diagnosis and therapy of neurodegenerative disorders
Title (en)
Mutant lysosomal type 5 P-type ATPase ATP13A2 and its use for diagnosis and therapy of neurodegenerative disorders
Title (de)
Mutanten der zur Klasse 5 der P-Type der ATPasen gehörigen ATP13A2 und ihre Verwendung in der Diagnostik und in der Therapie neurodegenerativer Krankheiten
Title (fr)
Mutant de l'ATP13A2 appartenant à la classe 5 du typ P des ATPases et son utilisation pour le diagnostic et la thérapie des maladies neurodégénératives
Publication
Application
Priority
EP 06111703 A 20060324
Abstract (en)
The present invention provides mutant forms of human lysosomal type 5 P-type ATPase ATP13A2, nucleic acid sequences coding for said mutant ATPase, and their use for diagnosis and therapy of neurodegenerative disorders, especially of parkinsonism and dementia. Test systems for testing candidate active agents for their therapeutic potential in diseases connected with ATP13A2 are also provided.
IPC 8 full level
C12Q 1/68 (2006.01); G01N 33/573 (2006.01)
CPC (source: EP)
C12Q 1/6883 (2013.01); G01N 33/6896 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); C12Q 2600/16 (2013.01); G01N 2333/914 (2013.01); G01N 2800/2835 (2013.01)
Citation (search report)
- [X] WO 03057854 A2 20030717 - CURAGEN CORP [US], et al
- [X] WO 03093444 A2 20031113 - INCYTE CORP
- [X] WO 03058021 A2 20030717 - XANTOS BIOMEDICINE AG [DE], et al
- [A] WO 03064628 A2 20030807 - CURAGEN CORP [US], et al
- [DA] HAMPSHIRE D J ET AL: "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.", JOURNAL OF MEDICAL GENETICS. OCT 2001, vol. 38, no. 10, October 2001 (2001-10-01), pages 680 - 682, XP002384217, ISSN: 1468-6244
- [DA] SCHULTHEIS PATRICK J ET AL: "Characterization of the P5 subfamily of P-type transport ATPases in mice.", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 22 OCT 2004, vol. 323, no. 3, 22 October 2004 (2004-10-22), pages 731 - 738, XP004566372, ISSN: 0006-291X
- [T] MORAN L B ET AL: "Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson's disease.", NEUROGENETICS. MAR 2006, vol. 7, no. 1, March 2006 (2006-03-01), pages 1 - 11, XP002384219, ISSN: 1364-6745
Designated contracting state (EPC)
AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IS IT LI LT LU LV MC NL PL PT RO SE SI SK TR
Designated extension state (EPC)
AL BA HR MK YU
DOCDB simple family (publication)
DOCDB simple family (application)
EP 06111703 A 20060324